Varaico: Literature-Extracted Genetic Variants

MEFV

2,671 papers

RefSeq Summary

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodi...

Pfam Domains

PYRINaa 8–84UCSCPAAD/DAPIN/Pyrin domain

zf-B_boxaa 370–412UCSCB-box zinc finger

PRYaa 600–648UCSCSPRY-associated domain

SPRYaa 652–771UCSCSPRY domain

Gene Aliases

HGNC Name

MEFV innate immunity regulator, pyrin

HGNC Alias Symbols

FMF; TRIM20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000243.3

p.A269V

c.806C>T

Surrounding Variants

1 paper

NM_000243.3

p.A269G

c.806C>G

4 papers

NM_000243.3

p.N270D

c.808A>G

4 papers

NM_000243.3

p.A268V

c.803C>T

1 paper

NM_000243.3

p.L271L

c.811C>T

88 papers

NM_000243.3

p.T267I

c.800C>T

1 paper

NM_000243.3

p.K266N

c.798G>C

1 paper

NM_000243.3

p.D272fs

c.814_815fs

1 paper

NM_000243.3

p.K266E

c.796A>G

1 paper

NM_000243.3

p.S273A

c.817T>G

3 papers

NM_000243.3

p.E265E

c.795A>G

2 papers

NM_000243.3

p.S273L

c.818C>T

1 paper

NM_000243.3

p.E265G

c.794A>G